Aortopathy_Connective Tissue Disorders
Gene: SLC39A13EnsemblGeneIds (GRCh38): ENSG00000165915
EnsemblGeneIds (GRCh37): ENSG00000165915
OMIM: 608735, Gene2Phenotype
SLC39A13 is in 5 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
3 unrelated families described to date (PMID: 18985159;18513683). Is included in The 2017 International Classification of the Ehlers-Danlos Syndromes (PMID: 28306229). See PMID: 28306225 for a review.
Sources: LiteratureCreated: 1 Jul 2020, 2:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350
- OMIM
- 608735
- Clinvar variants
- Variants in SLC39A13
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc39a13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc39a13 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: SLC39A13 was added gene: SLC39A13 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A13 were set to 18985159; 18513683; 28306229; 28306225 Phenotypes for gene: SLC39A13 were set to Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350 Review for gene: SLC39A13 was set to GREEN gene: SLC39A13 was marked as current diagnostic